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CMS Clarifies Thinking on Regulation of DTC Genomics Shops; SACGHS Inches Toward Final Report

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By Turna Ray

The Centers of Medicare & Medicaid Services does not have the authority under the Clinical Laboratory Improvement Amendments to regulate direct-to-consumer genomics services that outsource genotyping laboratory services, an official from the federal body said during an HHS advisory committee meeting last week.

DTC personal genomics firms, such as "23andMe don't have a laboratory, but they do [genomic] interpretation," Penny Thompson, deputy director of CMS' Center for Medicaid and State Operations, said during a meeting of the HHS Secretary's Advisory Committee on Genetics, Health, and Society in Washington, DC. "That doesn't fall under CLIA."

Thompson added that CMS is attempting to contact DTC genomics firms with laboratories that do fall under CLIA but are not certified. "We are monitoring firms to see what they're actually saying, contacting them, and educating them. If the information they are providing is being used for medical decision making then we tell them they need to be certified through CLIA," Thompson said.

"Some of them have applied to CLIA, while others don't respond," she revealed, adding that CMS has no statutory authority to take enforcement action against labs that are making medical claims but don’t fall under CLIA. .

In the past CMS has said it is monitoring and is in discussion with DTC genomics firms about how they fall under CLIA [see PGx Reporter 06-10-2009]. However, this is the first time a CMS official has explicitly outlined the division's thinking on DTC genomics firms from a regulatory perspective.

In choosing to separate DTC genomics firms with internal labs from those who outsource lab services, CMS appears to have aligned its thinking with California legislation, which would exempt so-called "post-CLIA bioinformatics services" from having to meet CLIA requirements.

SB 482, introduced by California state Senator Alex Padilla (D-San Fernando Valley) earlier this year and supported by California-based direct-to-consumer personal genomics firm 23andMe, would amend the California Business and Professions Code to exempt so-called "post-CLIA bioinformatics services" from certain requirements that clinical laboratory services providers have to meet under the Clinical Laboratory Improvement Amendment [see PGx Reporter 06-24-2009]. The bill has been sitting with the California Senate Judiciary Committee since April 30.

"There are other states considering introducing similar legislation … separating labs from companies that do interpretation," Thompson said, without specifying which states were considering such legislation.

Where New York health regulators stand in this distinction between labs and companies that do interpretation is not yet clear. Although the New York State Department of Health has said it intends to hold firms that interpret genomic risk data to the same regulatory standards as laboratories, it has only asked Navigenics and Decode Genetics to garner state lab licenses. Both of these companies operate their own labs. NY health regulators have said they are still negotiating with 23andMe about its status in the state [see PGx Reporter 03-18-2009].

In view of Thompson's comments, SACGHS committee members decided to highlight in a forthcoming report on DTC genomic firms the need for the HHS Secretary to support statutory changes that would enhance CMS' ability to take enforcement actions against laboratories that have flouted CLIA-certification requirements.

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In this report on the DTC personal genomics industry, which SACGHS is currently in the process of finalizing, the advisory group will recommend the HHS Secretary address "the gaps and inconsistencies in federal regulations" by convening a series of stakeholder meetings. The committee will also urge the Secretary to include laboratories providing DTC personal genomics testing and services if HHS establishes a laboratory registry, as SACGHS previously suggested in an earlier report on genetic testing oversight [see PGx Reporter 05-28-2008].

Liz Mansfeld, the US Food and Drug Administration's's senior genomics advisor and an ex officio SACGHS member, pointed out at the meeting that while the FDA feels that DTC genomics firms would fall under the medical device regulatory rubric, "that doesn't mean that the FDA will necessarily exercise oversight." When it comes to the subject of regulating DTC genomics services, the FDA has not said much more than that it is watching the evolving industry with interest.

Since the FDA takes a "risk-based" approach to regulating medical devices, Mansfield requested that SACGHS gauge where it feels DTC genomics firms fall in terms of risk in relation to other tests, such as Myriad's BRACAnalysis, which it does not regulate, and other pharmacogenomic tests that require pre-market approval from the agency.

In the forthcoming report, SACGHS will also recommend the formation of an HHS/Federal Trade Commission task force for developing marketing guidelines for the nascent consumer genomics industry.

FTC Attorney Sarah Botha noted during the meeting that while the agency is monitoring DTC genomics firms, she could not reveal information about ongoing investigations. However, Botha expressed that as an enforcement agency FTC lacked the expertise to discern whether the clinical utility and validity of DTC gene scans were being marketed in line with current standards.

According to committee members, the proposed HHS/FTC task force would advise FTC on how to exercise its enforcement authority for this evolving industry under current statutes.

James Evans, SACGHS member and director of Clinical Cancer Genetics at the University of North Carolina – Chapel Hill, pointed out that the committee report should highlight that there is insufficient knowledge among consumers about genetics; there is little involvement of the DTC firms in informing the consumer about the implications of gene risk data; and there is a lack of physician involvement in helping consumers interpret and understand the test results.

The recommendations will also outline steps to enhance the privacy protections and develop educational programs for consumers using such DTC genomics services.

The report will be finalized by year end and sent to the HHS Secretary early next year.

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